Incidental Mutation 'R6353:Prl7c1'
ID 512309
Institutional Source Beutler Lab
Gene Symbol Prl7c1
Ensembl Gene ENSMUSG00000060738
Gene Name prolactin family 7, subfamily c, member 1
Synonyms 1600017N11Rik, Prlpo, PLP-O
MMRRC Submission 044505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 27957583-27964829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27957709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000072712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072943]
AlphaFold Q9CRB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000072943
AA Change: S244P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072712
Gene: ENSMUSG00000060738
AA Change: S244P

DomainStartEndE-ValueType
Pfam:Hormone_1 17 242 8.1e-60 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik C A 9: 53,325,642 (GRCm39) Q60K probably benign Het
Aadacl2fm2 A T 3: 59,659,529 (GRCm39) L327F probably damaging Het
Aamp T C 1: 74,319,987 (GRCm39) D397G probably benign Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Acta1 T C 8: 124,620,426 (GRCm39) E4G probably benign Het
Apob A T 12: 8,059,421 (GRCm39) K2601N probably damaging Het
Arpin C A 7: 79,585,093 (GRCm39) probably benign Het
Asnsd1 T C 1: 53,386,938 (GRCm39) I230V probably benign Het
Baiap2l1 C T 5: 144,218,898 (GRCm39) E237K possibly damaging Het
Chek1 T C 9: 36,635,255 (GRCm39) K43E probably benign Het
Clec2g T A 6: 128,959,895 (GRCm39) probably null Het
Cnot10 A G 9: 114,426,614 (GRCm39) L646P probably damaging Het
Cyp2j9 T C 4: 96,474,135 (GRCm39) T102A probably benign Het
Dnase1l2 A T 17: 24,661,219 (GRCm39) L30Q probably damaging Het
Edc3 T C 9: 57,623,520 (GRCm39) S152P probably benign Het
Gask1b A T 3: 79,848,647 (GRCm39) R464S probably damaging Het
Gpr160 A T 3: 30,950,171 (GRCm39) D81V probably damaging Het
Intu A T 3: 40,608,138 (GRCm39) D32V probably damaging Het
Itga5 T C 15: 103,260,950 (GRCm39) E512G probably damaging Het
Khnyn T C 14: 56,131,760 (GRCm39) F561L possibly damaging Het
Kmt2e T A 5: 23,698,243 (GRCm39) V645E probably damaging Het
Mcoln3 T C 3: 145,836,909 (GRCm39) F247S probably damaging Het
Nek9 G A 12: 85,348,603 (GRCm39) T977I probably damaging Het
Nphs1 A G 7: 30,173,969 (GRCm39) T1015A probably damaging Het
Ntmt2 A G 1: 163,531,680 (GRCm39) Y158H possibly damaging Het
Nudcd1 T C 15: 44,284,158 (GRCm39) Y76C probably damaging Het
Or2a54 C A 6: 43,093,070 (GRCm39) Y131* probably null Het
Or8b44 T C 9: 38,410,112 (GRCm39) I49T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Rpap1 G T 2: 119,607,377 (GRCm39) probably null Het
Rrp8 G A 7: 105,383,325 (GRCm39) R314* probably null Het
Smarca4 T A 9: 21,590,445 (GRCm39) probably null Het
Stambpl1 A G 19: 34,211,520 (GRCm39) probably null Het
Tmeff2 T C 1: 51,220,985 (GRCm39) V320A probably damaging Het
Top2b A G 14: 16,416,671 (GRCm38) K83E probably damaging Het
Ttc39b C G 4: 83,148,730 (GRCm39) V560L probably benign Het
Ttn A T 2: 76,672,153 (GRCm39) probably benign Het
Usp32 T C 11: 84,913,107 (GRCm39) I934V probably benign Het
Uxs1 T C 1: 43,836,410 (GRCm39) I122V probably damaging Het
Vmn1r168 A G 7: 23,240,944 (GRCm39) N267S probably benign Het
Vmn2r16 A G 5: 109,488,119 (GRCm39) N331D probably benign Het
Other mutations in Prl7c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Prl7c1 APN 13 27,960,198 (GRCm39) missense probably damaging 1.00
IGL03096:Prl7c1 APN 13 27,957,689 (GRCm39) missense probably damaging 0.96
PIT4458001:Prl7c1 UTSW 13 27,957,741 (GRCm39) missense probably benign
R0566:Prl7c1 UTSW 13 27,962,961 (GRCm39) missense probably damaging 1.00
R0856:Prl7c1 UTSW 13 27,957,717 (GRCm39) missense possibly damaging 0.84
R0908:Prl7c1 UTSW 13 27,957,717 (GRCm39) missense possibly damaging 0.84
R1585:Prl7c1 UTSW 13 27,962,838 (GRCm39) missense probably damaging 0.99
R4193:Prl7c1 UTSW 13 27,960,261 (GRCm39) missense probably benign 0.01
R4628:Prl7c1 UTSW 13 27,962,065 (GRCm39) missense probably benign
R4728:Prl7c1 UTSW 13 27,960,268 (GRCm39) missense probably benign 0.00
R4873:Prl7c1 UTSW 13 27,957,742 (GRCm39) missense probably benign 0.01
R4875:Prl7c1 UTSW 13 27,957,742 (GRCm39) missense probably benign 0.01
R5714:Prl7c1 UTSW 13 27,962,949 (GRCm39) nonsense probably null
R6505:Prl7c1 UTSW 13 27,957,776 (GRCm39) missense probably damaging 1.00
R6878:Prl7c1 UTSW 13 27,962,827 (GRCm39) missense possibly damaging 0.66
R7104:Prl7c1 UTSW 13 27,962,952 (GRCm39) nonsense probably null
R7879:Prl7c1 UTSW 13 27,962,817 (GRCm39) missense probably damaging 1.00
R7896:Prl7c1 UTSW 13 27,962,070 (GRCm39) missense possibly damaging 0.86
R8828:Prl7c1 UTSW 13 27,957,854 (GRCm39) missense probably benign 0.14
R9142:Prl7c1 UTSW 13 27,964,751 (GRCm39) start gained probably benign
R9215:Prl7c1 UTSW 13 27,960,204 (GRCm39) missense probably benign 0.32
R9296:Prl7c1 UTSW 13 27,962,812 (GRCm39) missense probably benign 0.06
R9453:Prl7c1 UTSW 13 27,957,870 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- AAGTTGGCATCACCTGTGTG -3'
(R):5'- CTGACTATGCTTTTGACCATTAGG -3'

Sequencing Primer
(F):5'- CACCTGTGTGATGGCATAATTGAATG -3'
(R):5'- TTCATCCTGGAATGGAGGAGAATAC -3'
Posted On 2018-04-27