Mutagenetix > Incidental Mutation

Incidental Mutation 'R5139:Prl8a1'

396359

Institutional Source

Beutler Lab

Gene Symbol

Prl8a1

Ensembl Gene

ENSMUSG00000019756

Gene Name

prolactin family 8, subfamily a, member 1

Synonyms

Plpcd, Prlpc4, PLP-Cd, 3830403L08Rik, 1600017L04Rik

MMRRC Submission

042725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27757905-27766154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27758049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 220 (D220V)

Ref Sequence

ENSEMBL: ENSMUSP00000006664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006664] [ENSMUST00000095926]

AlphaFold

Q9DAV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000006664
AA Change: D220V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006664
Gene: ENSMUSG00000019756
AA Change: D220V

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	240	7.2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095926

SMART Domains

Protein: ENSMUSP00000093616
Gene: ENSMUSG00000019756

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	193	1e-39	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,905 (GRCm39)	L625P	probably damaging	Het
Agtpbp1	A	G	13: 59,648,027 (GRCm39)	S598P	probably damaging	Het
Ahnak	A	C	19: 8,982,019 (GRCm39)	D1101A	probably damaging	Het
Aoah	T	C	13: 21,207,407 (GRCm39)	V542A	possibly damaging	Het
Aox1	T	C	1: 58,100,456 (GRCm39)	S418P	probably benign	Het
Appl1	A	G	14: 26,669,112 (GRCm39)	I354T	probably benign	Het
BC035947	T	C	1: 78,475,884 (GRCm39)	E216G	possibly damaging	Het
Bnip3l	A	G	14: 67,237,064 (GRCm39)	S63P	probably damaging	Het
Cckar	T	C	5: 53,860,265 (GRCm39)	N188S	probably benign	Het
Ccl24	C	T	5: 135,601,775 (GRCm39)	A18T	probably benign	Het
Cmya5	A	G	13: 93,232,569 (GRCm39)	C840R	probably benign	Het
Copa	C	T	1: 171,948,896 (GRCm39)	R1183W	probably damaging	Het
Dnah10	T	C	5: 124,876,024 (GRCm39)	V2621A	probably damaging	Het
Fryl	A	G	5: 73,248,061 (GRCm39)	Y1019H	probably damaging	Het
Hira	T	C	16: 18,773,508 (GRCm39)	Y943H	probably damaging	Het
Ighv3-8	T	C	12: 114,285,994 (GRCm39)	Y116C	probably damaging	Het
Igkv4-70	G	A	6: 69,245,089 (GRCm39)	T44I	probably damaging	Het
Lce3c	G	A	3: 92,852,778 (GRCm39)	G80S	unknown	Het
Ldhb	A	T	6: 142,439,921 (GRCm39)	N206K	probably damaging	Het
Mical1	T	A	10: 41,354,411 (GRCm39)		probably null	Het
Myh2	T	C	11: 67,070,174 (GRCm39)	L402P	probably damaging	Het
Naa15	T	A	3: 51,351,261 (GRCm39)	L144I	probably damaging	Het
Nbea	T	A	3: 55,534,384 (GRCm39)	I2918F	possibly damaging	Het
Or5w11	C	A	2: 87,459,000 (GRCm39)	H64Q	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pdlim7	A	G	13: 55,654,869 (GRCm39)	S214P	probably damaging	Het
Polg	T	C	7: 79,099,773 (GRCm39)	D49G	probably damaging	Het
Polr2f	C	A	15: 79,035,858 (GRCm39)	D106E	possibly damaging	Het
Ppp6r3	A	C	19: 3,514,610 (GRCm39)	N766K	probably damaging	Het
Qrfprl	A	T	6: 65,433,203 (GRCm39)	N341I	probably damaging	Het
Septin9	A	G	11: 117,247,511 (GRCm39)	K497E	possibly damaging	Het
Sfswap	T	G	5: 129,648,073 (GRCm39)	M927R	possibly damaging	Het
Smad9	T	G	3: 54,704,827 (GRCm39)	W400G	possibly damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tesmin	A	G	19: 3,456,934 (GRCm39)	I238V	probably damaging	Het
Trf	C	T	9: 103,100,133 (GRCm39)		probably null	Het
Trpc3	A	T	3: 36,725,706 (GRCm39)	M90K	possibly damaging	Het
Tshz3	C	T	7: 36,470,450 (GRCm39)	T813I	probably benign	Het
Tub	T	A	7: 108,610,309 (GRCm39)	M1K	probably null	Het
Wdfy3	A	T	5: 101,997,133 (GRCm39)		probably null	Het
Zfp853	T	C	5: 143,274,570 (GRCm39)	Q350R	unknown	Het

Other mutations in Prl8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02259:Prl8a1	APN	13	27,766,089 (GRCm39)	missense	probably benign	0.23
IGL02369:Prl8a1	APN	13	27,760,924 (GRCm39)	missense	possibly damaging	0.58
IGL03257:Prl8a1	APN	13	27,759,656 (GRCm39)	missense	probably damaging	1.00
IGL02837:Prl8a1	UTSW	13	27,759,617 (GRCm39)	missense	probably damaging	1.00
R0838:Prl8a1	UTSW	13	27,758,008 (GRCm39)	missense	probably damaging	1.00
R1480:Prl8a1	UTSW	13	27,758,055 (GRCm39)	missense	possibly damaging	0.84
R1973:Prl8a1	UTSW	13	27,760,917 (GRCm39)	missense	probably benign	0.07
R2352:Prl8a1	UTSW	13	27,759,572 (GRCm39)	missense	probably damaging	1.00
R2396:Prl8a1	UTSW	13	27,758,007 (GRCm39)	missense	probably benign	0.00
R3732:Prl8a1	UTSW	13	27,763,716 (GRCm39)	missense	probably damaging	0.98
R3874:Prl8a1	UTSW	13	27,759,441 (GRCm39)	missense	possibly damaging	0.53
R4895:Prl8a1	UTSW	13	27,759,513 (GRCm39)	missense	probably benign	0.20
R5135:Prl8a1	UTSW	13	27,763,802 (GRCm39)	splice site	probably null
R5908:Prl8a1	UTSW	13	27,758,040 (GRCm39)	missense	probably benign	0.00
R6232:Prl8a1	UTSW	13	27,759,557 (GRCm39)	missense	possibly damaging	0.86
R6262:Prl8a1	UTSW	13	27,758,126 (GRCm39)	missense	possibly damaging	0.95
R7203:Prl8a1	UTSW	13	27,758,172 (GRCm39)	missense	probably damaging	0.99
R7243:Prl8a1	UTSW	13	27,766,086 (GRCm39)	missense	probably damaging	1.00
R7372:Prl8a1	UTSW	13	27,758,089 (GRCm39)	missense	probably damaging	0.97
R7485:Prl8a1	UTSW	13	27,758,068 (GRCm39)	missense	probably damaging	1.00
R8115:Prl8a1	UTSW	13	27,758,028 (GRCm39)	missense	probably benign	0.01
R8782:Prl8a1	UTSW	13	27,758,011 (GRCm39)	missense	probably damaging	1.00
R8892:Prl8a1	UTSW	13	27,766,069 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GGACATTAAAGAGATCCATTATACACA -3'
(R):5'- GCATATTTCTGAATATTTCTCCTGACT -3'

Sequencing Primer
(F):5'- GGTGTTCCCTTAGCAATC -3'
(R):5'- CTGAATATTTCTCCTGACTGAACAC -3'

Posted On

2016-06-21