Mutagenetix > Incidental Mutation

Incidental Mutation 'R8771:Prl7a1'

664423

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

068602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27817349-27826476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27819811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 148 (W148R)

Ref Sequence

ENSEMBL: ENSMUSP00000093614 (fasta)

Gene Model

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

AlphaFold

O54830

Predicted Effect

probably damaging
Transcript: ENSMUST00000006659
AA Change: W147R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006659
Gene: ENSMUSG00000006488
AA Change: W147R

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 damaging
Transcript: ENSMUST00000095924
AA Change: W148R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093614
Gene: ENSMUSG00000006488
AA Change: W148R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224852
AA Change: W147R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,880,320 (GRCm39)	I451T	probably damaging	Het
Acin1	T	C	14: 54,880,496 (GRCm39)	K1236E	unknown	Het
AI661453	T	C	17: 47,777,683 (GRCm39)	S470P	unknown	Het
Ano5	C	A	7: 51,216,095 (GRCm39)	N357K	probably damaging	Het
Ano5	C	T	7: 51,220,047 (GRCm39)	Q396*	probably null	Het
Baz1b	T	A	5: 135,273,151 (GRCm39)	M1425K	probably benign	Het
Cdh22	A	T	2: 164,988,689 (GRCm39)	V222E	possibly damaging	Het
Celsr1	A	T	15: 85,788,175 (GRCm39)	S2692R	probably benign	Het
Ces5a	A	G	8: 94,255,249 (GRCm39)	I144T	possibly damaging	Het
D5Ertd579e	T	A	5: 36,761,940 (GRCm39)	N1309I	probably damaging	Het
Dnmt3b	C	T	2: 153,504,734 (GRCm39)	T112M	possibly damaging	Het
Eif4g3	C	T	4: 137,907,848 (GRCm39)	Q1283*	probably null	Het
Etnppl	T	A	3: 130,414,024 (GRCm39)	M41K	probably damaging	Het
Hhatl	G	A	9: 121,617,776 (GRCm39)	T271I	possibly damaging	Het
Igkv5-37	A	G	6: 69,940,423 (GRCm39)	S74P	probably damaging	Het
Krt87	A	G	15: 101,385,779 (GRCm39)	V272A	probably benign	Het
Lgr6	A	T	1: 134,933,429 (GRCm39)	L262*	probably null	Het
Lrriq3	G	A	3: 154,899,270 (GRCm39)	V590I	probably damaging	Het
Mfsd13a	T	C	19: 46,360,668 (GRCm39)	V382A	probably damaging	Het
Minar2	T	C	18: 59,200,052 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,240,596 (GRCm39)	T1429A	probably benign	Het
Mroh5	A	T	15: 73,693,203 (GRCm39)	M79K	possibly damaging	Het
Myo1c	A	G	11: 75,556,709 (GRCm39)	K553R	probably benign	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Or4c12	T	C	2: 89,773,565 (GRCm39)	K298R	probably benign	Het
Or5aq6	T	C	2: 86,923,294 (GRCm39)	Y149C	probably benign	Het
Or5m10b	T	G	2: 85,699,712 (GRCm39)	Y259D	probably damaging	Het
Or5p76	T	A	7: 108,122,632 (GRCm39)	N175I	possibly damaging	Het
Ptpn2	G	T	18: 67,805,659 (GRCm39)	T402K	probably benign	Het
Ptprf	A	G	4: 118,068,987 (GRCm39)	M1665T	possibly damaging	Het
Raet1e	G	T	10: 22,057,041 (GRCm39)	V122F	probably damaging	Het
Serpina3m	A	G	12: 104,357,841 (GRCm39)	E255G	probably damaging	Het
Sorcs2	T	C	5: 36,188,624 (GRCm39)	Y828C	probably damaging	Het
Sprr1a	T	A	3: 92,391,989 (GRCm39)	H4L	probably benign	Het
Sptssa	A	G	12: 54,703,211 (GRCm39)	Y20H	probably damaging	Het
Synpo2l	A	G	14: 20,710,491 (GRCm39)	S939P	probably damaging	Het
Tdrd7	T	C	4: 46,010,800 (GRCm39)	V568A	probably damaging	Het
Tmem132c	C	T	5: 127,437,192 (GRCm39)	P227L	probably benign	Het
Tmtc3	A	G	10: 100,286,180 (GRCm39)	S548P	possibly damaging	Het
Trip12	A	T	1: 84,721,018 (GRCm39)		probably benign	Het
Ttll6	A	G	11: 96,042,762 (GRCm39)	Y436C	probably damaging	Het
Unc80	A	G	1: 66,685,554 (GRCm39)	D2226G	possibly damaging	Het
Vmn1r142	T	C	7: 21,862,737 (GRCm39)	M242V	probably benign	Het
Vmn2r12	T	G	5: 109,239,952 (GRCm39)	T204P	possibly damaging	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r61	C	A	7: 41,916,194 (GRCm39)	A269D	probably damaging	Het
Zfp148	A	G	16: 33,317,656 (GRCm39)	D776G	possibly damaging	Het
Zfp775	A	T	6: 48,596,906 (GRCm39)	Q260L	probably benign	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
R8376:Prl7a1	UTSW	13	27,821,638 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGTGGCATTCATGAGTGAG -3'
(R):5'- GCTTAAAGGAAAGTCTGATGGTAC -3'

Sequencing Primer
(F):5'- CGTGGCATTCATGAGTGAGAAAAG -3'
(R):5'- TGGTACAGTTTCATATGGAAAACAAG -3'

Posted On

2021-03-08