Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Prl7d1'

161990

Institutional Source

Beutler Lab

Gene Symbol

Prl7d1

Ensembl Gene

ENSMUSG00000021348

Gene Name

prolactin family 7, subfamily d, member 1

Synonyms

Plfr, PRP, PLF-RP

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1459 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27706337-27716736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27709257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 224 (D224N)

Ref Sequence

ENSEMBL: ENSMUSP00000153033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021776] [ENSMUST00000224026]

AlphaFold

P04769

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021776
AA Change: D223N

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: D223N

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	240	1.1e-78	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224026
AA Change: D224N

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.3807

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,532,341 (GRCm38)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,702,920 (GRCm38)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,918,662 (GRCm38)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,198,804 (GRCm38)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,425,865 (GRCm38)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,200,122 (GRCm38)		probably null	Het
Ankrd13c	T	A	3: 157,972,310 (GRCm38)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,880,829 (GRCm38)	A97S	probably benign	Het
Apaf1	T	C	10: 91,062,160 (GRCm38)	N245S	probably benign	Het
Apob	A	G	12: 8,006,047 (GRCm38)	T1510A	probably benign	Het
Apob	A	G	12: 8,011,937 (GRCm38)	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,306,937 (GRCm38)	T12I	probably benign	Het
Bend4	A	G	5: 67,400,075 (GRCm38)	V466A	probably damaging	Het
Bend7	G	A	2: 4,744,428 (GRCm38)	E119K	probably damaging	Het
Capn5	G	T	7: 98,131,842 (GRCm38)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,851,943 (GRCm38)	I63V	probably benign	Het
Cd86	T	A	16: 36,628,988 (GRCm38)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,296,300 (GRCm38)		probably benign	Het
Cep95	C	T	11: 106,817,955 (GRCm38)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,255,613 (GRCm38)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,937,589 (GRCm38)	M356K	probably damaging	Het
Coq7	C	T	7: 118,510,037 (GRCm38)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,299 (GRCm38)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,743,686 (GRCm38)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,854,019 (GRCm38)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,912,547 (GRCm38)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,614,797 (GRCm38)	M624I	probably damaging	Het
Fbxo42	T	C	4: 141,167,762 (GRCm38)	V12A	probably benign	Het
Fopnl	G	A	16: 14,304,516 (GRCm38)	T128I	possibly damaging	Het
Gabarapl1	T	A	6: 129,538,672 (GRCm38)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,662,076 (GRCm38)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,582,152 (GRCm38)		noncoding transcript	Het
Gm6904	T	A	14: 59,244,778 (GRCm38)	E175D	probably damaging	Het
Gnl3	G	A	14: 31,017,846 (GRCm38)	R12C	probably damaging	Het
Golga2	T	G	2: 32,297,795 (GRCm38)		probably null	Het
Grk3	T	A	5: 112,915,012 (GRCm38)	R656S	probably benign	Het
Gsap	T	A	5: 21,207,238 (GRCm38)		probably benign	Het
H60c	T	C	10: 3,260,240 (GRCm38)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,329,444 (GRCm38)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,979,111 (GRCm38)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,671,414 (GRCm38)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,491,587 (GRCm38)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,460,477 (GRCm38)	E3546D	probably damaging	Het
Lrp2	T	A	2: 69,483,394 (GRCm38)	D2331V	probably damaging	Het
Lzts2	T	A	19: 45,021,454 (GRCm38)	V9E	probably damaging	Het
Matr3	T	A	18: 35,584,656 (GRCm38)	D302E	probably benign	Het
Mcoln2	A	G	3: 146,192,224 (GRCm38)		probably null	Het
Metap2	T	C	10: 93,868,949 (GRCm38)	D272G	probably damaging	Het
Mitf	A	G	6: 98,010,467 (GRCm38)	D337G	probably damaging	Het
Mkl2	T	C	16: 13,401,569 (GRCm38)	V693A	possibly damaging	Het
Msh2	A	G	17: 87,678,343 (GRCm38)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,924,348 (GRCm38)	M642L	probably benign	Het
Noxa1	G	T	2: 25,092,546 (GRCm38)	Q86K	probably benign	Het
Nrap	T	C	19: 56,384,130 (GRCm38)	T48A	probably benign	Het
Nup160	T	A	2: 90,690,150 (GRCm38)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,236,329 (GRCm38)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,555,065 (GRCm38)	N281S	probably benign	Het
Pcnp	C	T	16: 56,024,340 (GRCm38)	E66K	possibly damaging	Het
Pik3cg	A	G	12: 32,204,984 (GRCm38)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 105,381,799 (GRCm38)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,610,775 (GRCm38)	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,737,990 (GRCm38)	Y82F	probably damaging	Het
Prkd3	T	C	17: 78,971,367 (GRCm38)	D430G	probably damaging	Het
Ptpdc1	A	T	13: 48,586,697 (GRCm38)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,661,187 (GRCm38)		probably null	Het
Sipa1	A	G	19: 5,651,664 (GRCm38)	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,230,620 (GRCm38)	C383*	probably null	Het
Slc19a1	C	G	10: 77,042,535 (GRCm38)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,223,761 (GRCm38)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,354,917 (GRCm38)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,852,507 (GRCm38)	H225Y	possibly damaging	Het
Son	T	C	16: 91,655,342 (GRCm38)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,611,883 (GRCm38)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,244,064 (GRCm38)		probably benign	Het
Tatdn2	T	A	6: 113,710,070 (GRCm38)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,927,516 (GRCm38)	R44L	probably benign	Het
Tenm3	G	A	8: 48,235,971 (GRCm38)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,845,531 (GRCm38)		probably benign	Het
Top3a	A	T	11: 60,759,362 (GRCm38)	I120N	probably damaging	Het
Umodl1	T	A	17: 30,982,258 (GRCm38)		probably benign	Het
Umodl1	T	C	17: 30,986,504 (GRCm38)	V662A	probably benign	Het
Ush2a	T	C	1: 188,862,851 (GRCm38)	S3827P	probably benign	Het
Vasn	T	A	16: 4,648,609 (GRCm38)		probably null	Het
Vmn2r69	A	T	7: 85,406,700 (GRCm38)	C743*	probably null	Het
Vmn2r79	C	A	7: 87,037,794 (GRCm38)	H794Q	probably benign	Het

Other mutations in Prl7d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Prl7d1	APN	13	27,710,166 (GRCm38)	missense	possibly damaging	0.91
IGL01735:Prl7d1	APN	13	27,714,389 (GRCm38)	missense	possibly damaging	0.83
IGL02139:Prl7d1	APN	13	27,712,083 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Prl7d1	UTSW	13	27,714,337 (GRCm38)	missense	possibly damaging	0.90
PIT4531001:Prl7d1	UTSW	13	27,710,178 (GRCm38)	missense	probably damaging	1.00
R0555:Prl7d1	UTSW	13	27,712,055 (GRCm38)	missense	probably benign	0.13
R0625:Prl7d1	UTSW	13	27,710,140 (GRCm38)	missense	probably benign	0.10
R0631:Prl7d1	UTSW	13	27,710,182 (GRCm38)	missense	probably benign	0.32
R0837:Prl7d1	UTSW	13	27,714,338 (GRCm38)	missense	probably benign	0.06
R1403:Prl7d1	UTSW	13	27,709,197 (GRCm38)	missense	possibly damaging	0.89
R1403:Prl7d1	UTSW	13	27,709,197 (GRCm38)	missense	possibly damaging	0.89
R1643:Prl7d1	UTSW	13	27,712,131 (GRCm38)	missense	possibly damaging	0.53
R1691:Prl7d1	UTSW	13	27,709,382 (GRCm38)	missense	probably damaging	0.97
R2016:Prl7d1	UTSW	13	27,710,173 (GRCm38)	missense	probably damaging	1.00
R3873:Prl7d1	UTSW	13	27,716,668 (GRCm38)	start codon destroyed	probably null	0.92
R3874:Prl7d1	UTSW	13	27,716,668 (GRCm38)	start codon destroyed	probably null	0.92
R5251:Prl7d1	UTSW	13	27,709,244 (GRCm38)	missense	probably benign	0.33
R5275:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense	probably damaging	0.99
R5295:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense	probably damaging	0.99
R5398:Prl7d1	UTSW	13	27,710,074 (GRCm38)	missense	probably damaging	1.00
R6798:Prl7d1	UTSW	13	27,709,397 (GRCm38)	critical splice acceptor site	probably null
R6818:Prl7d1	UTSW	13	27,714,471 (GRCm38)	missense	probably benign	0.07
R6825:Prl7d1	UTSW	13	27,710,142 (GRCm38)	missense	probably benign	0.01
R7478:Prl7d1	UTSW	13	27,710,185 (GRCm38)	nonsense	probably null
R7795:Prl7d1	UTSW	13	27,709,280 (GRCm38)	missense	probably damaging	1.00
R7995:Prl7d1	UTSW	13	27,710,071 (GRCm38)	missense	probably benign
R8193:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense
R9313:Prl7d1	UTSW	13	27,709,199 (GRCm38)	missense	probably benign
R9424:Prl7d1	UTSW	13	27,710,202 (GRCm38)	missense	probably benign	0.00
R9430:Prl7d1	UTSW	13	27,714,377 (GRCm38)	missense	possibly damaging	0.80
R9733:Prl7d1	UTSW	13	27,714,356 (GRCm38)	missense	probably benign	0.00
R9758:Prl7d1	UTSW	13	27,709,277 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCTTGCCTGGAATGTGACTTAAGCC -3'
(R):5'- AGAAGCAGAAATCCATGCCTGTGAC -3'

Sequencing Primer
(F):5'- CTTAAGCCACAGAAGAATGCTG -3'
(R):5'- TCAGCCTTTAGAAGGCATAGGTC -3'

Posted On

2014-03-14