Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Prr36'

326474

Institutional Source

Beutler Lab

Gene Symbol

Prr36

Ensembl Gene

ENSMUSG00000064125

Gene Name

proline rich 36

Synonyms

BC068157

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4259543-4267459 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 4264901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168386] [ENSMUST00000175906] [ENSMUST00000176227] [ENSMUST00000177491]

AlphaFold

E9PV26

Predicted Effect

unknown
Transcript: ENSMUST00000168386
AA Change: T255K

SMART Domains

Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: T255K

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
internal_repeat_1	63	82	5.9e-10	PROSPERO
internal_repeat_1	87	106	5.9e-10	PROSPERO
low complexity region	109	123	N/A	INTRINSIC
low complexity region	358	388	N/A	INTRINSIC
low complexity region	390	425	N/A	INTRINSIC
low complexity region	466	497	N/A	INTRINSIC
low complexity region	543	567	N/A	INTRINSIC
low complexity region	571	612	N/A	INTRINSIC
low complexity region	647	726	N/A	INTRINSIC
low complexity region	733	751	N/A	INTRINSIC
low complexity region	755	780	N/A	INTRINSIC
low complexity region	783	867	N/A	INTRINSIC
low complexity region	1020	1045	N/A	INTRINSIC
Pfam:DUF4596	1053	1098	4.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175906

SMART Domains

Protein: ENSMUSP00000135713
Gene: ENSMUSG00000064125

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
internal_repeat_1	63	82	5.38e-8	PROSPERO
internal_repeat_1	87	106	5.38e-8	PROSPERO
low complexity region	109	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176227

Predicted Effect

probably benign
Transcript: ENSMUST00000176645

Predicted Effect

probably benign
Transcript: ENSMUST00000177491

SMART Domains

Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
internal_repeat_1	63	82	1.65e-6	PROSPERO
internal_repeat_1	87	106	1.65e-6	PROSPERO
low complexity region	109	123	N/A	INTRINSIC

Meta Mutation Damage Score

0.0927

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	probably benign	Het

Other mutations in Prr36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Prr36	APN	8	4,266,230 (GRCm39)	missense	probably benign	0.01
IGL01535:Prr36	APN	8	4,264,043 (GRCm39)	unclassified	probably benign
IGL01658:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL01710:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL01712:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL01713:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL01892:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL01893:Prr36	APN	8	4,265,243 (GRCm39)	missense	probably damaging	1.00
IGL02496:Prr36	APN	8	4,266,407 (GRCm39)	nonsense	probably null
IGL02829:Prr36	APN	8	4,265,278 (GRCm39)	missense	possibly damaging	0.55
R0479:Prr36	UTSW	8	4,263,930 (GRCm39)	nonsense	probably null
R0667:Prr36	UTSW	8	4,266,311 (GRCm39)	unclassified	probably benign
R0784:Prr36	UTSW	8	4,263,771 (GRCm39)	unclassified	probably benign
R1737:Prr36	UTSW	8	4,264,370 (GRCm39)	unclassified	probably benign
R2017:Prr36	UTSW	8	4,265,205 (GRCm39)	missense	probably benign	0.02
R2032:Prr36	UTSW	8	4,264,304 (GRCm39)	unclassified	probably benign
R2430:Prr36	UTSW	8	4,263,488 (GRCm39)	unclassified	probably benign
R4160:Prr36	UTSW	8	4,262,910 (GRCm39)	missense	probably benign	0.10
R4184:Prr36	UTSW	8	4,263,409 (GRCm39)	unclassified	probably benign
R4887:Prr36	UTSW	8	4,260,881 (GRCm39)	missense	probably benign	0.01
R5508:Prr36	UTSW	8	4,266,488 (GRCm39)	missense	probably damaging	0.99
R5628:Prr36	UTSW	8	4,266,273 (GRCm39)	small deletion	probably benign
R6189:Prr36	UTSW	8	4,264,177 (GRCm39)	unclassified	probably benign
R6277:Prr36	UTSW	8	4,264,746 (GRCm39)	unclassified	probably benign
R7185:Prr36	UTSW	8	4,266,458 (GRCm39)	missense	probably damaging	1.00
R7286:Prr36	UTSW	8	4,265,163 (GRCm39)	critical splice donor site	probably benign
R7338:Prr36	UTSW	8	4,266,212 (GRCm39)	missense	probably damaging	1.00
R7604:Prr36	UTSW	8	4,264,836 (GRCm39)	missense	unknown
R7621:Prr36	UTSW	8	4,263,150 (GRCm39)	missense	unknown
R7699:Prr36	UTSW	8	4,263,989 (GRCm39)	missense	unknown
R7703:Prr36	UTSW	8	4,262,982 (GRCm39)	missense	probably benign	0.03
R7842:Prr36	UTSW	8	4,260,953 (GRCm39)	missense	probably benign	0.09
R7853:Prr36	UTSW	8	4,263,905 (GRCm39)	missense	unknown
R8325:Prr36	UTSW	8	4,262,982 (GRCm39)	missense	probably benign	0.03
R8340:Prr36	UTSW	8	4,264,224 (GRCm39)	missense	unknown
R8353:Prr36	UTSW	8	4,263,831 (GRCm39)	unclassified	probably benign
R8777-TAIL:Prr36	UTSW	8	4,266,273 (GRCm39)	small deletion	probably benign
R9498:Prr36	UTSW	8	4,263,291 (GRCm39)	missense	unknown
R9502:Prr36	UTSW	8	4,264,775 (GRCm39)	missense	unknown
R9757:Prr36	UTSW	8	4,260,998 (GRCm39)	missense	probably damaging	1.00
RF044:Prr36	UTSW	8	4,266,273 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTGAGCTGCGAGGTATG -3'
(R):5'- CAGTCTTTGAAGGCAACCAGC -3'

Sequencing Primer
(F):5'- AGGTATGCGCAGGAGCC -3'
(R):5'- ACCAGCCCCGAGATGCTTATG -3'

Posted On

2015-07-06