Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Prl8a2'

561546

Institutional Source

Beutler Lab

Gene Symbol

Prl8a2

Ensembl Gene

ENSMUSG00000018259

Gene Name

prolactin family 8, subfamily a, member 2

Synonyms

D/tPRP, DPRP, mdPRP, Dtprp

MMRRC Submission

045289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27529656-27538199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27534998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 91 (E91G)

Ref Sequence

ENSEMBL: ENSMUSP00000018403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018403] [ENSMUST00000110363]

AlphaFold

O54832

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018403
AA Change: E91G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018403
Gene: ENSMUSG00000018259
AA Change: E91G

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	240	6.4e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110363
AA Change: E90G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105992
Gene: ENSMUSG00000018259
AA Change: E90G

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	15	239	2.1e-46	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced pregnancy success when exposed to hypoxic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,645,188 (GRCm39)	H358N	probably benign	Het
Abcg3	A	G	5: 105,087,094 (GRCm39)	F543L	possibly damaging	Het
Asnsd1	T	C	1: 53,387,352 (GRCm39)	T92A	probably damaging	Het
Atg2a	G	T	19: 6,303,471 (GRCm39)		probably null	Het
Aven	T	A	2: 112,461,191 (GRCm39)	N327K	possibly damaging	Het
Brd9	T	C	13: 74,087,063 (GRCm39)	V116A	probably damaging	Het
Car14	A	G	3: 95,806,629 (GRCm39)	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,345,422 (GRCm39)	I138T	probably benign	Het
Cmya5	A	G	13: 93,226,938 (GRCm39)	Y2717H	probably damaging	Het
Eno1b	C	A	18: 48,180,746 (GRCm39)	T308K	probably damaging	Het
Epha3	T	C	16: 63,372,857 (GRCm39)	T949A	probably benign	Het
Fcrl5	C	T	3: 87,351,081 (GRCm39)	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,023 (GRCm39)	Q664L	unknown	Het
Fsip2	A	T	2: 82,819,412 (GRCm39)	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 97,082,818 (GRCm39)	L38P	probably damaging	Het
Gpr68	A	G	12: 100,845,058 (GRCm39)	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741 (GRCm39)	M677K	possibly damaging	Het
Grm7	A	G	6: 111,335,785 (GRCm39)	Y732C	probably damaging	Het
H2-T15	A	C	17: 36,367,235 (GRCm39)	M329R	probably benign	Het
Hoxb4	A	G	11: 96,209,906 (GRCm39)	E104G	probably benign	Het
Kat7	A	G	11: 95,182,390 (GRCm39)	S237P	possibly damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kif20a	T	A	18: 34,762,613 (GRCm39)	H495Q	probably benign	Het
Lama1	A	T	17: 68,071,668 (GRCm39)	T852S		Het
Mep1b	T	A	18: 21,226,600 (GRCm39)	D487E	probably benign	Het
Mki67	T	C	7: 135,305,911 (GRCm39)	T656A	probably damaging	Het
Mlh3	A	G	12: 85,313,481 (GRCm39)	W902R	probably benign	Het
Muc16	A	T	9: 18,555,372 (GRCm39)	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Pkd1l2	A	G	8: 117,722,536 (GRCm39)	I2424T	probably benign	Het
Prpf18	A	G	2: 4,650,435 (GRCm39)	V65A	probably benign	Het
Pxmp2	A	G	5: 110,433,771 (GRCm39)	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,287,839 (GRCm39)	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,710,991 (GRCm39)	R368Q	unknown	Het
Rims2	C	A	15: 39,339,885 (GRCm39)	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,868,108 (GRCm39)	M318L	probably benign	Het
Slc35b2	A	G	17: 45,875,955 (GRCm39)	T55A	probably benign	Het
Trnp1	T	C	4: 133,225,416 (GRCm39)	E118G	possibly damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wdfy3	A	T	5: 102,049,785 (GRCm39)	H1680Q	probably damaging	Het
Zfp131	A	G	13: 120,237,377 (GRCm39)	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,743,367 (GRCm39)	V66A	probably damaging	Het

Other mutations in Prl8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02654:Prl8a2	APN	13	27,536,780 (GRCm39)	missense	possibly damaging	0.56
IGL03268:Prl8a2	APN	13	27,537,938 (GRCm39)	missense	probably benign	0.09
R0557:Prl8a2	UTSW	13	27,536,875 (GRCm39)	nonsense	probably null
R0574:Prl8a2	UTSW	13	27,532,883 (GRCm39)	missense	probably damaging	1.00
R1166:Prl8a2	UTSW	13	27,537,935 (GRCm39)	missense	possibly damaging	0.53
R1401:Prl8a2	UTSW	13	27,537,979 (GRCm39)	missense	possibly damaging	0.55
R1875:Prl8a2	UTSW	13	27,535,037 (GRCm39)	missense	probably benign	0.02
R2420:Prl8a2	UTSW	13	27,532,896 (GRCm39)	missense	possibly damaging	0.46
R4152:Prl8a2	UTSW	13	27,534,985 (GRCm39)	missense	possibly damaging	0.86
R5285:Prl8a2	UTSW	13	27,534,116 (GRCm39)	splice site	probably null
R6452:Prl8a2	UTSW	13	27,536,780 (GRCm39)	missense	probably benign	0.08
R6906:Prl8a2	UTSW	13	27,532,900 (GRCm39)	missense	probably benign	0.03
R7490:Prl8a2	UTSW	13	27,536,753 (GRCm39)	missense	possibly damaging	0.47
R8170:Prl8a2	UTSW	13	27,536,794 (GRCm39)	missense	probably benign
R9099:Prl8a2	UTSW	13	27,536,794 (GRCm39)	missense	probably benign	0.01
R9099:Prl8a2	UTSW	13	27,536,793 (GRCm39)	nonsense	probably null
R9244:Prl8a2	UTSW	13	27,534,982 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGATAAATTCACTCCCTTCAGTG -3'
(R):5'- ATGCCTGCCCTAACTGACAG -3'

Sequencing Primer
(F):5'- CAGAATTGGGTAATTGGCACTTTC -3'
(R):5'- GCAGCACACACTCAGGG -3'

Posted On

2019-06-26