Incidental Mutation 'R5398:Prl7d1'
ID 429810
Institutional Source Beutler Lab
Gene Symbol Prl7d1
Ensembl Gene ENSMUSG00000021348
Gene Name prolactin family 7, subfamily d, member 1
Synonyms Plfr, PLF-RP, PRP
MMRRC Submission 042969-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5398 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 27892981-27900720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27894057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 171 (I171F)
Ref Sequence ENSEMBL: ENSMUSP00000153033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021776] [ENSMUST00000224026]
AlphaFold P04769
Predicted Effect probably damaging
Transcript: ENSMUST00000021776
AA Change: I170F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: I170F

DomainStartEndE-ValueType
Pfam:Hormone_1 17 240 1.1e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224026
AA Change: I171F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,362,595 (GRCm39) L34P possibly damaging Het
Adam34 A C 8: 44,104,278 (GRCm39) C456G probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Atp8b3 T C 10: 80,365,533 (GRCm39) D407G probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Chac1 T G 2: 119,183,725 (GRCm39) L109R possibly damaging Het
Csf2rb A G 15: 78,232,820 (GRCm39) D709G probably benign Het
Ddx42 T A 11: 106,115,724 (GRCm39) D112E probably benign Het
Dnah5 A G 15: 28,293,872 (GRCm39) K1326E probably benign Het
Dnajc3 T A 14: 119,209,799 (GRCm39) Y291* probably null Het
Dsg2 T C 18: 20,712,190 (GRCm39) F109L probably benign Het
Egfl8 T C 17: 34,833,613 (GRCm39) probably benign Het
Emb T A 13: 117,404,088 (GRCm39) I280N probably damaging Het
Gcc2 C A 10: 58,105,329 (GRCm39) N188K probably benign Het
Gdpd4 A T 7: 97,621,185 (GRCm39) H166L probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Itga11 A G 9: 62,653,205 (GRCm39) T360A probably benign Het
Kctd1 A G 18: 15,195,322 (GRCm39) S434P possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif24 T C 4: 41,394,401 (GRCm39) E824G possibly damaging Het
Lekr1 T A 3: 65,688,807 (GRCm39) noncoding transcript Het
Ociad1 T A 5: 73,467,755 (GRCm39) V231E probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1l4 C A 2: 37,091,330 (GRCm39) Q26K probably benign Het
Pcdhb1 T C 18: 37,399,207 (GRCm39) L386P probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pcnx2 T C 8: 126,614,687 (GRCm39) K255E possibly damaging Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Ppl A G 16: 4,922,786 (GRCm39) M235T probably benign Het
Ptprt T C 2: 161,769,512 (GRCm39) Y451C probably damaging Het
Ranbp17 A T 11: 33,424,998 (GRCm39) Y453N probably damaging Het
Rgs16 C T 1: 153,616,246 (GRCm39) T11I probably benign Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Scn9a T C 2: 66,318,387 (GRCm39) Y1479C probably damaging Het
Slc35f4 T C 14: 49,536,304 (GRCm39) T294A probably damaging Het
Slc39a6 A T 18: 24,730,936 (GRCm39) I61N probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spink12 A G 18: 44,240,794 (GRCm39) D60G possibly damaging Het
Sppl2a T C 2: 126,761,638 (GRCm39) I289V probably benign Het
Srebf2 A G 15: 82,055,443 (GRCm39) T176A probably damaging Het
Syce1l T C 8: 114,379,145 (GRCm39) L91S probably damaging Het
Tchhl1 T C 3: 93,378,910 (GRCm39) I538T probably benign Het
Tcte1 C T 17: 45,850,752 (GRCm39) Q343* probably null Het
Tdpoz2 T G 3: 93,559,441 (GRCm39) D177A probably damaging Het
Thada T G 17: 84,733,614 (GRCm39) D1011A probably benign Het
Tnn T A 1: 159,975,092 (GRCm39) M112L probably benign Het
Traf1 T C 2: 34,835,447 (GRCm39) E325G probably damaging Het
Tyw1 T C 5: 130,305,998 (GRCm39) probably benign Het
Vmn2r111 C A 17: 22,792,252 (GRCm39) M1I probably null Het
Wdr11 C T 7: 129,232,956 (GRCm39) T996M probably damaging Het
Other mutations in Prl7d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Prl7d1 APN 13 27,894,149 (GRCm39) missense possibly damaging 0.91
IGL01735:Prl7d1 APN 13 27,898,372 (GRCm39) missense possibly damaging 0.83
IGL02139:Prl7d1 APN 13 27,896,066 (GRCm39) missense probably damaging 1.00
PIT4305001:Prl7d1 UTSW 13 27,898,320 (GRCm39) missense possibly damaging 0.90
PIT4531001:Prl7d1 UTSW 13 27,894,161 (GRCm39) missense probably damaging 1.00
R0555:Prl7d1 UTSW 13 27,896,038 (GRCm39) missense probably benign 0.13
R0625:Prl7d1 UTSW 13 27,894,123 (GRCm39) missense probably benign 0.10
R0631:Prl7d1 UTSW 13 27,894,165 (GRCm39) missense probably benign 0.32
R0837:Prl7d1 UTSW 13 27,898,321 (GRCm39) missense probably benign 0.06
R1403:Prl7d1 UTSW 13 27,893,180 (GRCm39) missense possibly damaging 0.89
R1403:Prl7d1 UTSW 13 27,893,180 (GRCm39) missense possibly damaging 0.89
R1459:Prl7d1 UTSW 13 27,893,240 (GRCm39) missense possibly damaging 0.81
R1643:Prl7d1 UTSW 13 27,896,114 (GRCm39) missense possibly damaging 0.53
R1691:Prl7d1 UTSW 13 27,893,365 (GRCm39) missense probably damaging 0.97
R2016:Prl7d1 UTSW 13 27,894,156 (GRCm39) missense probably damaging 1.00
R3873:Prl7d1 UTSW 13 27,900,651 (GRCm39) start codon destroyed probably null 0.92
R3874:Prl7d1 UTSW 13 27,900,651 (GRCm39) start codon destroyed probably null 0.92
R5251:Prl7d1 UTSW 13 27,893,227 (GRCm39) missense probably benign 0.33
R5275:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense probably damaging 0.99
R5295:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense probably damaging 0.99
R6798:Prl7d1 UTSW 13 27,893,380 (GRCm39) critical splice acceptor site probably null
R6818:Prl7d1 UTSW 13 27,898,454 (GRCm39) missense probably benign 0.07
R6825:Prl7d1 UTSW 13 27,894,125 (GRCm39) missense probably benign 0.01
R7478:Prl7d1 UTSW 13 27,894,168 (GRCm39) nonsense probably null
R7795:Prl7d1 UTSW 13 27,893,263 (GRCm39) missense probably damaging 1.00
R7995:Prl7d1 UTSW 13 27,894,054 (GRCm39) missense probably benign
R8193:Prl7d1 UTSW 13 27,893,230 (GRCm39) missense
R9313:Prl7d1 UTSW 13 27,893,182 (GRCm39) missense probably benign
R9424:Prl7d1 UTSW 13 27,894,185 (GRCm39) missense probably benign 0.00
R9430:Prl7d1 UTSW 13 27,898,360 (GRCm39) missense possibly damaging 0.80
R9733:Prl7d1 UTSW 13 27,898,339 (GRCm39) missense probably benign 0.00
R9758:Prl7d1 UTSW 13 27,893,260 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TCTGTGCATATCTTGTAATGGAGAG -3'
(R):5'- CCATTAGGATAGCACATAGCTGTG -3'

Sequencing Primer
(F):5'- GCCTAACTTTTGATCTTGC -3'
(R):5'- AGCCACATGTAAATAATGCTCTATG -3'
Posted On 2016-09-06