Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Csrnp3'

710811

Institutional Source

Beutler Lab

Gene Symbol

Csrnp3

Ensembl Gene

ENSMUSG00000044647

Gene Name

cysteine-serine-rich nuclear protein 3

Synonyms

mbu1, CSRNP-3, A330102K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65676111-65861890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65832841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 127 (R127C)

Ref Sequence

ENSEMBL: ENSMUSP00000055719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053910] [ENSMUST00000112394] [ENSMUST00000112397] [ENSMUST00000122912] [ENSMUST00000145598] [ENSMUST00000176109]

AlphaFold

P59055

Predicted Effect

probably damaging
Transcript: ENSMUST00000053910
AA Change: R127C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: R127C

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC
low complexity region	123	140	N/A	INTRINSIC
low complexity region	161	176	N/A	INTRINSIC
Blast:CXC	221	268	3e-15	BLAST
low complexity region	342	359	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112394
AA Change: R115C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: R115C

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112397

SMART Domains

Protein: ENSMUSP00000135151
Gene: ENSMUSG00000044647

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122912
AA Change: R127C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: R127C

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC
Pfam:CSRNP_N	70	291	5e-107	PFAM
low complexity region	342	359	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145598
AA Change: R115C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: R115C

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176109
AA Change: R115C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: R115C

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 85,000,282 (GRCm39)	F281I	probably damaging	Het
Acad8	A	G	9: 26,887,041 (GRCm39)	M402T	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Apol7a	T	C	15: 77,273,925 (GRCm39)	E179G	possibly damaging	Het
Asmt	A	G	X: 169,110,141 (GRCm39)	T217A	probably benign	Het
Cadm2	T	C	16: 66,544,102 (GRCm39)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,864,623 (GRCm39)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,878,230 (GRCm39)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,172,903 (GRCm39)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,182,895 (GRCm39)	S1268N	probably damaging	Het
Dsc2	T	A	18: 20,174,773 (GRCm39)	R501*	probably null	Het
Dusp2	C	T	2: 127,179,638 (GRCm39)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,261,838 (GRCm39)	K878E	possibly damaging	Het
Evc	T	C	5: 37,476,434 (GRCm39)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,194,390 (GRCm39)	K166*	probably null	Het
Fstl4	C	A	11: 52,664,778 (GRCm39)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,313,659 (GRCm39)	I551N	probably benign	Het
Hc	G	T	2: 34,927,615 (GRCm39)	S333*	probably null	Het
Ibsp	A	G	5: 104,458,297 (GRCm39)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,240,937 (GRCm39)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,161,662 (GRCm39)	T531P	probably damaging	Het
Mapt	C	A	11: 104,189,555 (GRCm39)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,647,496 (GRCm39)	T1840A	probably benign	Het
Myof	A	T	19: 37,923,294 (GRCm39)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,513,199 (GRCm39)	V626L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,399,749 (GRCm39)	M291K	probably damaging	Het
Nubp2	C	T	17: 25,103,476 (GRCm39)	V134I	probably benign	Het
Nuf2	T	C	1: 169,337,917 (GRCm39)	I287V	probably benign	Het
Or1d2	T	A	11: 74,256,089 (GRCm39)	M198K	probably benign	Het
Or2n1	T	A	17: 38,486,421 (GRCm39)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,319,864 (GRCm39)	L213P	probably benign	Het
Or51i2	A	G	7: 103,689,720 (GRCm39)	N239S	probably benign	Het
Or55b4	A	C	7: 102,134,180 (GRCm39)	V49G	possibly damaging	Het
Or5k3	G	A	16: 58,969,302 (GRCm39)	V30M	probably damaging	Het
Or8k28	A	T	2: 86,285,845 (GRCm39)	C257S	probably benign	Het
Pals1	G	T	12: 78,871,521 (GRCm39)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r12a	A	G	10: 108,100,571 (GRCm39)	E863G	probably damaging	Het
Pskh1	C	T	8: 106,640,091 (GRCm39)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,377,188 (GRCm39)	I334V	probably benign	Het
Rnf180	T	A	13: 105,318,027 (GRCm39)	K462*	probably null	Het
Sin3a	A	G	9: 57,008,445 (GRCm39)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,694,463 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,915 (GRCm39)	T426A	probably benign	Het
Smarca5	T	C	8: 81,463,358 (GRCm39)	K70R	probably benign	Het
Smg1	A	G	7: 117,807,303 (GRCm39)	V182A	unknown	Het
Stim1	G	A	7: 102,064,592 (GRCm39)	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,609,432 (GRCm39)	D201G	probably damaging	Het
Tcf25	A	G	8: 124,127,831 (GRCm39)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,523,472 (GRCm39)	N135S	possibly damaging	Het
Togaram1	A	G	12: 65,014,429 (GRCm39)	N560S	probably damaging	Het
Unc13d	A	G	11: 115,966,529 (GRCm39)		probably null	Het
Zfp445	A	C	9: 122,681,581 (GRCm39)	S787A	probably benign	Het
Zfp949	T	C	9: 88,449,260 (GRCm39)	W22R	probably damaging	Het

Other mutations in Csrnp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Csrnp3	APN	2	65,779,336 (GRCm39)	missense	probably damaging	0.99
IGL02427:Csrnp3	APN	2	65,708,380 (GRCm39)	utr 5 prime	probably benign
IGL02558:Csrnp3	APN	2	65,852,573 (GRCm39)	missense	probably damaging	1.00
IGL02605:Csrnp3	APN	2	65,853,153 (GRCm39)	missense	probably damaging	1.00
Uncle	UTSW	2	65,852,615 (GRCm39)	missense	probably benign	0.34
IGL02984:Csrnp3	UTSW	2	65,852,553 (GRCm39)	missense	probably benign	0.37
R0417:Csrnp3	UTSW	2	65,849,887 (GRCm39)	missense	probably benign	0.43
R0709:Csrnp3	UTSW	2	65,852,907 (GRCm39)	missense	probably damaging	0.99
R1340:Csrnp3	UTSW	2	65,832,740 (GRCm39)	missense	probably damaging	1.00
R1712:Csrnp3	UTSW	2	65,832,826 (GRCm39)	missense	probably damaging	1.00
R1960:Csrnp3	UTSW	2	65,853,363 (GRCm39)	missense	probably null	1.00
R1997:Csrnp3	UTSW	2	65,779,446 (GRCm39)	missense	probably damaging	1.00
R4839:Csrnp3	UTSW	2	65,852,375 (GRCm39)	nonsense	probably null
R5233:Csrnp3	UTSW	2	65,852,684 (GRCm39)	missense	possibly damaging	0.95
R5340:Csrnp3	UTSW	2	65,852,781 (GRCm39)	missense	probably benign	0.00
R6157:Csrnp3	UTSW	2	65,779,363 (GRCm39)	missense	probably damaging	1.00
R6781:Csrnp3	UTSW	2	65,852,615 (GRCm39)	missense	probably benign	0.34
R6974:Csrnp3	UTSW	2	65,779,408 (GRCm39)	missense	possibly damaging	0.59
R7120:Csrnp3	UTSW	2	65,853,354 (GRCm39)	missense	probably damaging	1.00
R7293:Csrnp3	UTSW	2	65,779,344 (GRCm39)	missense	probably damaging	1.00
R8250:Csrnp3	UTSW	2	65,852,562 (GRCm39)	missense	probably damaging	0.99
R8478:Csrnp3	UTSW	2	65,708,400 (GRCm39)	splice site	probably null
R8899:Csrnp3	UTSW	2	65,852,987 (GRCm39)	missense	possibly damaging	0.71
R9477:Csrnp3	UTSW	2	65,852,819 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGGCTTTACTGACCAGCTTC -3'
(R):5'- ATTCGTGGGCAGCTTCTCTG -3'

Sequencing Primer
(F):5'- GCTTCCTCCATCCTGAAAAGGGAG -3'
(R):5'- GCAGCTTCTCTGTCACGGAAAATAG -3'

Posted On

2022-04-18