Mutagenetix > Incidental Mutation

Incidental Mutation 'R7619:Cttnbp2nl'

589037

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2nl

Ensembl Gene

ENSMUSG00000062127

Gene Name

CTTNBP2 N-terminal like

Synonyms

MMRRC Submission

045686-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R7619 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104909231-104960462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104912076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 603 (S603P)

Ref Sequence

ENSEMBL: ENSMUSP00000076751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]

AlphaFold

Q99LJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077548
AA Change: S603P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: S603P

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	189	1.9e-60	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098763
AA Change: S603P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: S603P

Domain	Start	End	E-Value	Type
Pfam:CortBP2	2	188	8.5e-71	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197437

SMART Domains

Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	167	7.7e-53	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	G	16: 14,263,283 (GRCm39)	P748A	probably damaging	Het
Abcc12	A	G	8: 87,293,182 (GRCm39)	V2A	probably damaging	Het
Anxa3	T	C	5: 96,978,263 (GRCm39)	Y216H	probably damaging	Het
Arpc1a	C	A	5: 145,041,668 (GRCm39)	T317K	probably benign	Het
C330018D20Rik	A	G	18: 57,095,483 (GRCm39)	L34S	probably damaging	Het
C5ar1	A	G	7: 15,982,504 (GRCm39)	F172S	probably damaging	Het
Ccl27a	G	A	4: 41,774,166 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,752,342 (GRCm39)	N480D		Het
Dmc1	A	T	15: 79,480,443 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,323,475 (GRCm39)	I626V	probably benign	Het
Dnm2	A	G	9: 21,416,930 (GRCm39)	N821S	probably benign	Het
Dst	T	C	1: 34,238,509 (GRCm39)	L1723S	probably benign	Het
Ep300	T	A	15: 81,492,399 (GRCm39)	M245K	unknown	Het
Fam227a	T	C	15: 79,501,967 (GRCm39)	T536A	probably benign	Het
Fbn2	G	T	18: 58,213,299 (GRCm39)	R963S	possibly damaging	Het
Fbxo42	T	G	4: 140,927,673 (GRCm39)	I651S	possibly damaging	Het
Ggnbp1	T	A	17: 27,237,105 (GRCm39)	M1K	probably null	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Grid2	T	C	6: 63,908,085 (GRCm39)	F242L	possibly damaging	Het
Igf2r	A	G	17: 12,917,160 (GRCm39)	V1580A	possibly damaging	Het
Marchf4	A	G	1: 72,574,148 (GRCm39)	V50A	possibly damaging	Het
Mettl15	T	A	2: 108,923,220 (GRCm39)	R401*	probably null	Het
Mki67	A	T	7: 135,301,106 (GRCm39)	H1309Q	probably benign	Het
Mtor	T	C	4: 148,547,252 (GRCm39)	Y412H	probably damaging	Het
Myef2	C	T	2: 124,965,396 (GRCm39)	G15S	probably benign	Het
Napepld	A	T	5: 21,880,846 (GRCm39)	I183N	probably damaging	Het
Nbeal2	T	C	9: 110,454,886 (GRCm39)	E2644G	probably benign	Het
Neb	C	T	2: 52,186,438 (GRCm39)	R878Q	possibly damaging	Het
Or52l1	A	G	7: 104,829,956 (GRCm39)	V203A	probably damaging	Het
Otol1	A	T	3: 69,935,202 (GRCm39)	H398L	probably damaging	Het
Pcdhga9	A	G	18: 37,871,805 (GRCm39)	S545G	probably damaging	Het
Pramel19	T	G	4: 101,798,497 (GRCm39)	F156C	probably benign	Het
Rhbdl1	T	C	17: 26,055,991 (GRCm39)	S4G	possibly damaging	Het
Ric1	A	G	19: 29,557,175 (GRCm39)	E420G	probably benign	Het
Sap30l	G	A	11: 57,698,887 (GRCm39)	R120H	probably damaging	Het
Scn2a	T	C	2: 65,546,247 (GRCm39)	F937L	probably damaging	Het
Sdf2	G	A	11: 78,141,989 (GRCm39)	G108D	probably damaging	Het
Skint5	T	C	4: 113,381,305 (GRCm39)	S1263G	unknown	Het
Stab1	A	G	14: 30,867,194 (GRCm39)	I1722T	probably benign	Het
Syn3	A	G	10: 85,893,428 (GRCm39)	S472P	unknown	Het
Tcp11l2	T	C	10: 84,430,622 (GRCm39)	F249S	probably damaging	Het
Thoc7	T	A	14: 13,961,819 (GRCm38)		probably null	Het
Tvp23a	C	A	16: 10,246,602 (GRCm39)	C61F	probably damaging	Het
Ubfd1	G	A	7: 121,666,606 (GRCm39)	G34D	probably benign	Het
Vmn1r160	A	T	7: 22,570,967 (GRCm39)	T107S	probably damaging	Het
Vmn2r108	T	A	17: 20,692,457 (GRCm39)	K133I	probably benign	Het
Vmn2r15	A	T	5: 109,436,190 (GRCm39)		probably null	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp354c	C	T	11: 50,708,635 (GRCm39)		probably null	Het
Zfp560	G	T	9: 20,260,206 (GRCm39)	Q219K	probably benign	Het
Zfp691	C	T	4: 119,028,181 (GRCm39)	G17E	probably damaging	Het
Zfp930	T	A	8: 69,661,810 (GRCm39)	M1K	probably null	Het
Zkscan14	A	G	5: 145,132,169 (GRCm39)	F454S	probably benign	Het

Other mutations in Cttnbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Cttnbp2nl	APN	3	104,912,346 (GRCm39)	missense	probably damaging	1.00
IGL01832:Cttnbp2nl	APN	3	104,918,544 (GRCm39)	missense	probably damaging	1.00
IGL02070:Cttnbp2nl	APN	3	104,918,582 (GRCm39)	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R0132:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R1919:Cttnbp2nl	UTSW	3	104,918,594 (GRCm39)	missense	possibly damaging	0.51
R3766:Cttnbp2nl	UTSW	3	104,912,117 (GRCm39)	missense	probably benign	0.27
R3964:Cttnbp2nl	UTSW	3	104,913,321 (GRCm39)	missense	probably damaging	1.00
R4509:Cttnbp2nl	UTSW	3	104,940,063 (GRCm39)	missense	probably damaging	1.00
R4597:Cttnbp2nl	UTSW	3	104,913,191 (GRCm39)	missense	possibly damaging	0.76
R4820:Cttnbp2nl	UTSW	3	104,918,640 (GRCm39)	missense	probably benign	0.00
R5233:Cttnbp2nl	UTSW	3	104,912,357 (GRCm39)	missense	probably damaging	1.00
R6230:Cttnbp2nl	UTSW	3	104,918,655 (GRCm39)	missense	probably damaging	0.99
R6385:Cttnbp2nl	UTSW	3	104,912,952 (GRCm39)	missense	probably benign	0.41
R6551:Cttnbp2nl	UTSW	3	104,912,433 (GRCm39)	missense	possibly damaging	0.92
R6685:Cttnbp2nl	UTSW	3	104,912,814 (GRCm39)	missense	probably benign	0.06
R6883:Cttnbp2nl	UTSW	3	104,918,507 (GRCm39)	critical splice donor site	probably null
R7262:Cttnbp2nl	UTSW	3	104,940,062 (GRCm39)	missense	probably damaging	1.00
R7509:Cttnbp2nl	UTSW	3	104,940,046 (GRCm39)	missense	possibly damaging	0.94
R7978:Cttnbp2nl	UTSW	3	104,915,307 (GRCm39)	missense	probably damaging	0.99
R8115:Cttnbp2nl	UTSW	3	104,913,402 (GRCm39)	missense	probably damaging	1.00
X0060:Cttnbp2nl	UTSW	3	104,912,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTTTAACGCTGAGCTCTTG -3'
(R):5'- GGACAGACTACCGAAATCTGGC -3'

Sequencing Primer
(F):5'- CTCTTGGCCCGAGTCTGATG -3'
(R):5'- GAAATCTGGCCAGCACTGC -3'

Posted On

2019-10-24