Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Rpain'

397973

Institutional Source

Beutler Lab

Gene Symbol

Rpain

Ensembl Gene

ENSMUSG00000018449

Gene Name

RPA interacting protein

Synonyms

2400006N03Rik

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70861039-70868659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70864658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 115 (D115G)

Ref Sequence

ENSEMBL: ENSMUSP00000136592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000078528] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000167509] [ENSMUST00000178822] [ENSMUST00000169965] [ENSMUST00000171254] [ENSMUST00000154430]

AlphaFold

Q9CWY9

Predicted Effect

probably benign
Transcript: ENSMUST00000018593
AA Change: D115G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449
AA Change: D115G

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	8	47	1.7e-21	PFAM
Pfam:RPA_interact_M	59	127	1.1e-14	PFAM
Pfam:RPA_interact_C	136	217	2.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035283

SMART Domains

Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	13	752	1.1e-306	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078528

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446

Domain	Start	End	E-Value	Type
Pfam:MAM33	84	276	1.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108529

SMART Domains

Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	7.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108530

SMART Domains

Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	742	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108531

SMART Domains

Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	747	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151608

Predicted Effect

probably benign
Transcript: ENSMUST00000167509
AA Change: D115G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449
AA Change: D115G

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178822
AA Change: D115G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449
AA Change: D115G

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	2.7e-23	PFAM
Pfam:RPA_interact_M	58	128	5.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148168

Predicted Effect

probably benign
Transcript: ENSMUST00000169965

SMART Domains

Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1e-23	PFAM
Pfam:RPA_interact_M	58	106	6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171254

SMART Domains

Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	48	1.1e-23	PFAM
Pfam:RPA_interact_M	58	107	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178253

Predicted Effect

probably benign
Transcript: ENSMUST00000154430

SMART Domains

Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449

Domain	Start	End	E-Value	Type
Pfam:RPA_interact_N	7	38	1.7e-11	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Rpain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01946:Rpain	APN	11	70,861,358 (GRCm39)	missense	possibly damaging	0.71
R0962:Rpain	UTSW	11	70,865,867 (GRCm39)	critical splice donor site	probably null
R1529:Rpain	UTSW	11	70,865,741 (GRCm39)	missense	probably damaging	1.00
R4010:Rpain	UTSW	11	70,863,833 (GRCm39)	splice site	probably benign
R4950:Rpain	UTSW	11	70,861,747 (GRCm39)	missense	probably benign	0.00
R5420:Rpain	UTSW	11	70,868,516 (GRCm39)	splice site	probably null
R7190:Rpain	UTSW	11	70,862,735 (GRCm39)	missense	possibly damaging	0.82
R7650:Rpain	UTSW	11	70,861,271 (GRCm39)	unclassified	probably benign
R8171:Rpain	UTSW	11	70,864,724 (GRCm39)	missense	probably damaging	1.00
R9499:Rpain	UTSW	11	70,865,816 (GRCm39)	missense	probably damaging	1.00
R9551:Rpain	UTSW	11	70,865,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGAGTACAGTTCTGCATCTC -3'
(R):5'- CTTCCGGTCAATAAACTGGGTG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCAATAAACTGGGTGTGGGG -3'

Posted On

2016-07-06