Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Cnrip1'

490319

Institutional Source

Beutler Lab

Gene Symbol

Cnrip1

Ensembl Gene

ENSMUSG00000044629

Gene Name

cannabinoid receptor interacting protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17051586-17079371 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17054731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 94 (V94I)

Ref Sequence

ENSEMBL: ENSMUSP00000050036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020321] [ENSMUST00000058159] [ENSMUST00000131515]

AlphaFold

Q5M8N0

Predicted Effect

probably benign
Transcript: ENSMUST00000020321

SMART Domains

Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120

Domain	Start	End	E-Value	Type
PH	1	80	1.12e-2	SMART
DEP	113	198	2.53e-16	SMART
PH	222	326	5.96e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000058159
AA Change: V94I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050036
Gene: ENSMUSG00000044629
AA Change: V94I

Domain	Start	End	E-Value	Type
Pfam:CNRIP1	1	164	2.3e-80	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131515
AA Change: V94I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122150
Gene: ENSMUSG00000044629
AA Change: V94I

Domain	Start	End	E-Value	Type
Pfam:CNRIP1	4	171	5.6e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135637

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814	T306I	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cog6	A	T	3: 53,007,301	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206	Q425*	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,400,233	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Unc45a	A	C	7: 80,328,763	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	probably benign	Het

Other mutations in Cnrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02188:Cnrip1	APN	11	17078398	critical splice acceptor site	probably null
IGL02584:Cnrip1	APN	11	17078536	missense	probably damaging	0.99
IGL02701:Cnrip1	APN	11	17078415	missense	probably benign	0.00
Neighborly	UTSW	11	17078539	nonsense	probably null
R2093:Cnrip1	UTSW	11	17052237	missense	probably damaging	0.99
R3791:Cnrip1	UTSW	11	17054845	intron	probably benign
R4960:Cnrip1	UTSW	11	17052228	missense	probably damaging	1.00
R5068:Cnrip1	UTSW	11	17054687	missense	probably damaging	0.98
R6423:Cnrip1	UTSW	11	17052350	critical splice donor site	probably null
R6520:Cnrip1	UTSW	11	17078536	missense	probably damaging	0.99
R6562:Cnrip1	UTSW	11	17078539	nonsense	probably null
R6897:Cnrip1	UTSW	11	17054705	missense	probably damaging	1.00
R7338:Cnrip1	UTSW	11	17054657	missense	probably damaging	0.98
R8920:Cnrip1	UTSW	11	17055003	missense	unknown
R9214:Cnrip1	UTSW	11	17054740	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTCCTCTTTAGCCAAACCTTGTAGG -3'
(R):5'- TCCATGAGGGAAACTGAACCC -3'

Sequencing Primer
(F):5'- GCTCTCCAGGATTTTGATTCAG -3'
(R):5'- CTATTTCCATAGAAACTGGCTCCAG -3'

Posted On

2017-10-10