Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Hook2'

543911

Institutional Source

Beutler Lab

Gene Symbol

Hook2

Ensembl Gene

ENSMUSG00000052566

Gene Name

hook microtubule tethering protein 2

Synonyms

A630054I03Rik

MMRRC Submission

045098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85717232-85729978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85729185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 625 (E625G)

Ref Sequence

ENSEMBL: ENSMUSP00000067752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000064495] [ENSMUST00000209322] [ENSMUST00000209421] [ENSMUST00000209764] [ENSMUST00000210326]

AlphaFold

Q7TMK6

Predicted Effect

probably benign
Transcript: ENSMUST00000059072

SMART Domains

Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819

Domain	Start	End	E-Value	Type
Pfam:Bestrophin	8	316	5.8e-118	PFAM
low complexity region	340	352	N/A	INTRINSIC
low complexity region	408	417	N/A	INTRINSIC
low complexity region	428	447	N/A	INTRINSIC
low complexity region	457	479	N/A	INTRINSIC
low complexity region	484	501	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064495
AA Change: E625G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: E625G

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209322

Predicted Effect

probably benign
Transcript: ENSMUST00000209421

Predicted Effect

probably damaging
Transcript: ENSMUST00000209764
AA Change: E601G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000210326

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,099,990 (GRCm39)	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,688,594 (GRCm39)	M1R	probably null	Het
A730049H05Rik	T	C	6: 92,804,975 (GRCm39)		probably benign	Het
AC125199.3	G	T	16: 88,608,915 (GRCm39)	H52Q	possibly damaging	Het
Adam34	A	T	8: 44,105,642 (GRCm39)	M1K	probably null	Het
Adgrf5	T	C	17: 43,763,214 (GRCm39)		probably null	Het
Antxr2	T	C	5: 98,108,564 (GRCm39)	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,861,542 (GRCm39)	V714D	probably damaging	Het
Cd96	A	G	16: 45,870,087 (GRCm39)	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,809,188 (GRCm39)	A51E	probably benign	Het
Chd4	T	A	6: 125,091,339 (GRCm39)	D1243E	probably benign	Het
Cntf	A	T	19: 12,742,697 (GRCm39)	I21N	probably damaging	Het
Col11a2	C	T	17: 34,266,118 (GRCm39)	A282V	probably benign	Het
Col14a1	T	A	15: 55,274,958 (GRCm39)		probably null	Het
Cyp2b9	T	C	7: 25,900,564 (GRCm39)	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,590,860 (GRCm39)		probably null	Het
Fancd2	T	C	6: 113,547,979 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,839,608 (GRCm39)	F474I	probably benign	Het
Frem1	A	G	4: 82,858,599 (GRCm39)	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Gstm4	A	G	3: 107,951,981 (GRCm39)	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,009,534 (GRCm39)	D466G	probably benign	Het
Hspbp1	G	C	7: 4,667,714 (GRCm39)	P260A	probably benign	Het
Igdcc3	C	A	9: 65,088,853 (GRCm39)	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,581,195 (GRCm39)	E356K	probably benign	Het
Inpp4a	A	T	1: 37,428,772 (GRCm39)	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,300,531 (GRCm39)	H157R	probably damaging	Het
Klhl6	G	T	16: 19,772,337 (GRCm39)	T336N	probably damaging	Het
Marchf7	T	C	2: 60,059,428 (GRCm39)		probably null	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlh3	T	A	12: 85,282,494 (GRCm39)	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,541,522 (GRCm39)	M209V	probably benign	Het
Mtor	A	T	4: 148,548,932 (GRCm39)	T572S	probably benign	Het
Neurog1	T	C	13: 56,399,363 (GRCm39)	K128R	probably damaging	Het
Or10g6	T	A	9: 39,933,896 (GRCm39)	L69*	probably null	Het
Or2b4	T	A	17: 38,116,754 (GRCm39)	N239K	probably damaging	Het
Or5b122	A	G	19: 13,562,811 (GRCm39)	I48V	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,652 (GRCm39)	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,945 (GRCm39)	D306G	probably damaging	Het
Plekha5	C	T	6: 140,489,634 (GRCm39)	T237I	probably damaging	Het
Plscr1l1	T	C	9: 92,236,725 (GRCm39)	M128T	probably benign	Het
Pole	A	T	5: 110,480,365 (GRCm39)	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,310,715 (GRCm39)	Q74L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,178 (GRCm39)	F261S	probably damaging	Het
Psg21	A	T	7: 18,388,668 (GRCm39)		probably null	Het
Ptprg	T	A	14: 11,962,602 (GRCm38)	F133L	probably damaging	Het
Rom1	G	A	19: 8,906,569 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,412,489 (GRCm39)	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,367,164 (GRCm39)	S600P	probably benign	Het
Sema4b	T	A	7: 79,869,900 (GRCm39)	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,307,366 (GRCm39)	D199E	probably benign	Het
Slc19a1	A	G	10: 76,885,540 (GRCm39)	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,665,880 (GRCm39)	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,765,330 (GRCm39)	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,472,452 (GRCm39)	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940 (GRCm39)	F203L	probably benign	Het
Tnip1	T	A	11: 54,809,542 (GRCm39)	I442F	probably benign	Het
Txnip	A	G	3: 96,466,439 (GRCm39)	K127R	possibly damaging	Het
Usp32	A	C	11: 84,922,914 (GRCm39)	L172R	probably damaging	Het
Vmn2r66	A	G	7: 84,654,436 (GRCm39)	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,416,952 (GRCm39)	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,342,612 (GRCm39)	A885V	probably benign	Het

Other mutations in Hook2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hook2	APN	8	85,729,126 (GRCm39)	unclassified	probably benign
IGL01161:Hook2	APN	8	85,721,560 (GRCm39)	missense	probably benign	0.05
IGL01535:Hook2	APN	8	85,729,618 (GRCm39)	missense	probably benign	0.00
IGL01668:Hook2	APN	8	85,720,207 (GRCm39)	missense	possibly damaging	0.88
IGL01749:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01750:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01753:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01900:Hook2	APN	8	85,727,940 (GRCm39)	unclassified	probably benign
IGL02157:Hook2	APN	8	85,727,779 (GRCm39)	unclassified	probably benign
IGL02175:Hook2	APN	8	85,718,031 (GRCm39)	missense	probably damaging	1.00
IGL02350:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL02357:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL03377:Hook2	APN	8	85,727,964 (GRCm39)	nonsense	probably null
R0399:Hook2	UTSW	8	85,720,196 (GRCm39)	splice site	probably benign
R1133:Hook2	UTSW	8	85,722,433 (GRCm39)	missense	probably damaging	1.00
R2087:Hook2	UTSW	8	85,729,320 (GRCm39)	missense	probably damaging	0.98
R2277:Hook2	UTSW	8	85,729,560 (GRCm39)	nonsense	probably null
R2398:Hook2	UTSW	8	85,717,928 (GRCm39)	missense	probably damaging	0.98
R3406:Hook2	UTSW	8	85,720,613 (GRCm39)	splice site	probably benign
R4752:Hook2	UTSW	8	85,729,349 (GRCm39)	nonsense	probably null
R5014:Hook2	UTSW	8	85,718,006 (GRCm39)	missense	probably damaging	1.00
R5068:Hook2	UTSW	8	85,720,028 (GRCm39)	missense	possibly damaging	0.81
R5195:Hook2	UTSW	8	85,721,405 (GRCm39)	missense	probably damaging	1.00
R5360:Hook2	UTSW	8	85,728,033 (GRCm39)	missense	probably damaging	1.00
R5597:Hook2	UTSW	8	85,720,657 (GRCm39)	missense	probably benign	0.00
R5614:Hook2	UTSW	8	85,729,137 (GRCm39)	missense	probably damaging	1.00
R5843:Hook2	UTSW	8	85,717,912 (GRCm39)	missense	probably damaging	0.99
R5931:Hook2	UTSW	8	85,722,375 (GRCm39)	nonsense	probably null
R5942:Hook2	UTSW	8	85,721,409 (GRCm39)	splice site	probably null
R6120:Hook2	UTSW	8	85,724,754 (GRCm39)	missense	probably damaging	1.00
R6167:Hook2	UTSW	8	85,721,642 (GRCm39)	missense	probably damaging	1.00
R6936:Hook2	UTSW	8	85,729,627 (GRCm39)	missense	probably benign	0.04
R7058:Hook2	UTSW	8	85,724,040 (GRCm39)	missense	possibly damaging	0.89
R7101:Hook2	UTSW	8	85,723,680 (GRCm39)	missense	probably benign
R7177:Hook2	UTSW	8	85,718,046 (GRCm39)	missense	probably benign	0.07
R8072:Hook2	UTSW	8	85,721,120 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACTGTGTTGCCTAGAATGCATG -3'
(R):5'- TATGACCCACATGACCTCCCTG -3'

Sequencing Primer
(F):5'- TTGCCTAGAATGCATGAGGCC -3'
(R):5'- TCACCATGCTGTACCAGGC -3'

Posted On

2019-05-13