Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Cnksr1'

707669

Institutional Source

Beutler Lab

Gene Symbol

Cnksr1

Ensembl Gene

ENSMUSG00000028841

Gene Name

connector enhancer of kinase suppressor of Ras 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133955352-133965710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133963508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 58 (E58G)

Ref Sequence

ENSEMBL: ENSMUSP00000030645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030645]

AlphaFold

A2A9K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030645
AA Change: E58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: E58G

Domain	Start	End	E-Value	Type
SAM	4	70	1.44e-9	SMART
Pfam:CRIC_ras_sig	78	162	4.2e-26	PFAM
PDZ	206	276	1.48e-3	SMART
low complexity region	285	303	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
PH	388	488	4.38e-19	SMART
coiled coil region	596	624	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,903 (GRCm39)	S285P	probably damaging	Het
Arel1	C	T	12: 84,981,371 (GRCm39)	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,428,825 (GRCm39)	A362S	possibly damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,325,130 (GRCm39)	C325Y	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	Het
Zfp184	T	C	13: 22,144,411 (GRCm39)	C706R	probably damaging	Het

Other mutations in Cnksr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Cnksr1	APN	4	133,962,012 (GRCm39)	missense	probably benign	0.39
IGL01311:Cnksr1	APN	4	133,957,777 (GRCm39)	missense	probably damaging	1.00
IGL01872:Cnksr1	APN	4	133,956,275 (GRCm39)	missense	probably benign	0.13
IGL02082:Cnksr1	APN	4	133,963,363 (GRCm39)	missense	probably damaging	1.00
IGL02405:Cnksr1	APN	4	133,963,592 (GRCm39)	missense	possibly damaging	0.88
IGL02669:Cnksr1	APN	4	133,957,774 (GRCm39)	missense	probably damaging	0.98
IGL02948:Cnksr1	APN	4	133,962,417 (GRCm39)	splice site	probably null
IGL03037:Cnksr1	APN	4	133,962,417 (GRCm39)	splice site	probably null
IGL03381:Cnksr1	APN	4	133,959,482 (GRCm39)	missense	probably damaging	0.99
R0855:Cnksr1	UTSW	4	133,960,377 (GRCm39)	splice site	probably benign
R1958:Cnksr1	UTSW	4	133,955,727 (GRCm39)	missense	probably benign	0.02
R2049:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2140:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2141:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2142:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2389:Cnksr1	UTSW	4	133,961,057 (GRCm39)	missense	probably benign	0.03
R2495:Cnksr1	UTSW	4	133,959,473 (GRCm39)	missense	probably benign	0.00
R4596:Cnksr1	UTSW	4	133,961,189 (GRCm39)	missense	possibly damaging	0.90
R4668:Cnksr1	UTSW	4	133,960,282 (GRCm39)	intron	probably benign
R4896:Cnksr1	UTSW	4	133,956,986 (GRCm39)	splice site	probably null
R5367:Cnksr1	UTSW	4	133,957,525 (GRCm39)	missense	possibly damaging	0.94
R5673:Cnksr1	UTSW	4	133,962,499 (GRCm39)	missense	probably damaging	1.00
R5844:Cnksr1	UTSW	4	133,955,575 (GRCm39)	unclassified	probably benign
R6153:Cnksr1	UTSW	4	133,961,204 (GRCm39)	missense	probably damaging	1.00
R7207:Cnksr1	UTSW	4	133,962,434 (GRCm39)	missense	possibly damaging	0.75
R7261:Cnksr1	UTSW	4	133,963,084 (GRCm39)	splice site	probably null
R7978:Cnksr1	UTSW	4	133,963,342 (GRCm39)	missense	probably damaging	1.00
R8310:Cnksr1	UTSW	4	133,956,730 (GRCm39)	missense	probably damaging	1.00
R8855:Cnksr1	UTSW	4	133,959,494 (GRCm39)	missense	probably damaging	1.00
R9019:Cnksr1	UTSW	4	133,959,365 (GRCm39)	missense	probably damaging	1.00
R9028:Cnksr1	UTSW	4	133,960,608 (GRCm39)	missense	possibly damaging	0.48
R9102:Cnksr1	UTSW	4	133,956,323 (GRCm39)	missense	probably damaging	1.00
R9310:Cnksr1	UTSW	4	133,956,330 (GRCm39)	missense	probably damaging	1.00
R9435:Cnksr1	UTSW	4	133,961,885 (GRCm39)	missense	possibly damaging	0.94
Z1176:Cnksr1	UTSW	4	133,959,446 (GRCm39)	missense	probably damaging	1.00
Z1177:Cnksr1	UTSW	4	133,959,461 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCCTTGGACCAAGCTTTG -3'
(R):5'- CAGAATGACAATGACACCTGTTTC -3'

Sequencing Primer
(F):5'- CAAGCTTTGGAAGGCCTGG -3'
(R):5'- GACAATGACACCTGTTTCCTCACG -3'

Posted On

2022-04-18