Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Prr36'

62064

Institutional Source

Beutler Lab

Gene Symbol

Prr36

Ensembl Gene

ENSMUSG00000064125

Gene Name

proline rich 36

Synonyms

BC068157

MMRRC Submission

038852-MU

Accession Numbers

Essential gene?

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

Stock #

R0667 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

4259543-4267459 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 4266311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135166 (fasta)

Gene Model

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

AlphaFold

E9PV26

Predicted Effect

unknown
Transcript: ENSMUST00000168386
AA Change: Q80K

SMART Domains

Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: Q80K

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

unknown
Transcript: ENSMUST00000175906
AA Change: Q80K

SMART Domains

Protein: ENSMUSP00000135713
Gene: ENSMUSG00000064125
AA Change: Q80K

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

unknown
Transcript: ENSMUST00000177491
AA Change: Q80K

SMART Domains

Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125
AA Change: Q80K

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,218,637 (GRCm39)	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Piwil1	T	A	5: 128,818,542 (GRCm39)		probably null	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zfp456	A	T	13: 67,514,861 (GRCm39)	C282S	probably benign	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,355,944 (GRCm39)	G481C	probably damaging	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
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
R4393:Prr36	UTSW	8	4,264,901 (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'- ACCCTTGCTTGGGGAATTAGGGAG -3'
(R):5'- GGATAGCGTCAAATCAGGAACTGCC -3'

Sequencing Primer
(F):5'- GGGGAATTAACTTATTACCTGGC -3'
(R):5'- GAATGCCGTCTTCACGACC -3'

Posted On

2013-07-30