Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Prl7a1'

646699

Institutional Source

Beutler Lab

Gene Symbol

Prl7a1

Ensembl Gene

ENSMUSG00000006488

Gene Name

prolactin family 7, subfamily a, member 1

Synonyms

Prlpe, Prlpg, PLP-G, PLP-E

MMRRC Submission

067744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27817349-27826476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 27821638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 99 (E99D)

Ref Sequence

ENSEMBL: ENSMUSP00000093614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006659] [ENSMUST00000095924] [ENSMUST00000224852]

AlphaFold

O54830

Predicted Effect

probably benign
Transcript: ENSMUST00000006659
AA Change: E98D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000006659
Gene: ENSMUSG00000006488
AA Change: E98D

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	82	9.9e-8	PFAM
Pfam:Hormone_1	82	256	2.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095924
AA Change: E99D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000093614
Gene: ENSMUSG00000006488
AA Change: E99D

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	257	7.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224852
AA Change: E98D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	C	8: 25,409,936 (GRCm39)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,610,520 (GRCm39)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atp12a	G	T	14: 56,612,083 (GRCm39)		probably null	Het
Birc6	C	T	17: 74,896,635 (GRCm39)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,888,414 (GRCm39)	N67K	probably benign	Het
Cachd1	G	A	4: 100,832,073 (GRCm39)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,354,665 (GRCm39)	Q238*	probably null	Het
Cdc42	G	A	4: 137,056,205 (GRCm39)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,475,549 (GRCm39)	C307W	unknown	Het
Ddb1	G	A	19: 10,596,669 (GRCm39)	V463M	probably damaging	Het
Dhx30	G	A	9: 109,917,707 (GRCm39)	R365C	probably benign	Het
Dnah1	A	G	14: 31,023,303 (GRCm39)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,672,653 (GRCm39)	V144A	probably benign	Het
Enpp2	T	A	15: 54,773,491 (GRCm39)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,063,519 (GRCm39)	V317I	possibly damaging	Het
Gc	G	A	5: 89,586,118 (GRCm39)	Q341*	probably null	Het
Gpt2	A	T	8: 86,219,694 (GRCm39)	I47F	probably benign	Het
Ino80	A	T	2: 119,272,968 (GRCm39)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,077,051 (GRCm39)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,534,753 (GRCm39)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,112,018 (GRCm39)	V630A	probably benign	Het
Man2a2	C	T	7: 80,010,671 (GRCm39)	W773*	probably null	Het
Mgrn1	T	A	16: 4,733,630 (GRCm39)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,121,478 (GRCm39)	V52A	probably benign	Het
Myc	A	T	15: 61,859,395 (GRCm39)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,551,076 (GRCm39)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,023,592 (GRCm39)	N493D	probably damaging	Het
Or52w1	C	A	7: 105,017,847 (GRCm39)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,052,661 (GRCm39)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,518,684 (GRCm39)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,426,947 (GRCm39)	I703V	possibly damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,944,071 (GRCm39)	S36P	probably damaging	Het
Plk5	T	C	10: 80,196,179 (GRCm39)	F279L	probably damaging	Het
Rnf4	C	T	5: 34,508,701 (GRCm39)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,809,451 (GRCm39)	S264G	probably benign	Het
Sdk1	A	G	5: 142,144,376 (GRCm39)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,718,115 (GRCm39)	Y255H	probably benign	Het
Syne1	C	T	10: 4,993,615 (GRCm39)	G525D	probably benign	Het
Taldo1	T	C	7: 140,981,788 (GRCm39)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,853 (GRCm39)	T428A	probably damaging	Het
Tlr6	T	C	5: 65,112,455 (GRCm39)	K151E	probably benign	Het
Ubr2	T	A	17: 47,253,721 (GRCm39)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,199,737 (GRCm39)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,314,697 (GRCm39)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,149,869 (GRCm39)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,525,230 (GRCm39)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,857,037 (GRCm39)	Y81D	probably damaging	Het
Zw10	A	T	9: 48,988,783 (GRCm39)	Y683F	possibly damaging	Het

Other mutations in Prl7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Prl7a1	APN	13	27,824,778 (GRCm39)	missense	probably damaging	0.97
IGL02862:Prl7a1	APN	13	27,823,872 (GRCm39)	missense	probably benign	0.05
R0841:Prl7a1	UTSW	13	27,826,393 (GRCm39)	splice site	probably benign
R1005:Prl7a1	UTSW	13	27,826,429 (GRCm39)	missense	possibly damaging	0.75
R1641:Prl7a1	UTSW	13	27,817,612 (GRCm39)	missense	probably damaging	1.00
R1991:Prl7a1	UTSW	13	27,817,655 (GRCm39)	missense	probably damaging	0.96
R2233:Prl7a1	UTSW	13	27,826,402 (GRCm39)	critical splice donor site	probably null
R4061:Prl7a1	UTSW	13	27,819,832 (GRCm39)	missense	possibly damaging	0.83
R4239:Prl7a1	UTSW	13	27,821,549 (GRCm39)	missense	possibly damaging	0.92
R4817:Prl7a1	UTSW	13	27,819,747 (GRCm39)	missense	probably damaging	0.99
R4976:Prl7a1	UTSW	13	27,817,564 (GRCm39)	missense	possibly damaging	0.52
R4992:Prl7a1	UTSW	13	27,819,669 (GRCm39)	splice site	probably null
R5119:Prl7a1	UTSW	13	27,817,564 (GRCm39)	missense	possibly damaging	0.52
R5857:Prl7a1	UTSW	13	27,824,684 (GRCm39)	missense	probably damaging	0.99
R6060:Prl7a1	UTSW	13	27,821,571 (GRCm39)	missense	probably damaging	1.00
R6164:Prl7a1	UTSW	13	27,821,626 (GRCm39)	missense	probably benign	0.00
R6581:Prl7a1	UTSW	13	27,817,612 (GRCm39)	missense	probably damaging	1.00
R7126:Prl7a1	UTSW	13	27,826,402 (GRCm39)	critical splice donor site	probably null
R7892:Prl7a1	UTSW	13	27,817,661 (GRCm39)	missense	not run
R7908:Prl7a1	UTSW	13	27,826,433 (GRCm39)	start codon destroyed	probably null	0.91
R8771:Prl7a1	UTSW	13	27,819,811 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGTCCATTACCATGTAGGAATG -3'
(R):5'- CACTAGGCCCAGATTCTAAGG -3'

Sequencing Primer
(F):5'- GTCCATTACCATGTAGGAATGATTTC -3'
(R):5'- TGAATTGAGGTTTGACATTCAGATG -3'

Posted On

2020-09-02