Mutagenetix > Incidental Mutation

Incidental Mutation 'R3925:Pycr1'

308250

Institutional Source

Beutler Lab

Gene Symbol

Pycr1

Ensembl Gene

ENSMUSG00000025140

Gene Name

pyrroline-5-carboxylate reductase 1

Synonyms

MMRRC Submission

040916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120527591-120534602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120532961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

Ref Sequence

ENSEMBL: ENSMUSP00000117737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000151876] [ENSMUST00000170556]

AlphaFold

Q922W5

Predicted Effect

probably benign
Transcript: ENSMUST00000026133
AA Change: T100A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	5e-23	PFAM
Pfam:NAD_Gly3P_dh_N	2	144	9e-9	PFAM
Pfam:P5CR_dimer	162	268	2e-42	PFAM
low complexity region	292	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026134

SMART Domains

Protein: ENSMUSP00000026134
Gene: ENSMUSG00000025141

Domain	Start	End	E-Value	Type
Pfam:MARVEL	17	149	3.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133908

Predicted Effect

probably benign
Transcript: ENSMUST00000139706
AA Change: T100A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117737
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.9e-25	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141254
AA Change: T100A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	2.5e-24	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	3.5e-9	PFAM
Pfam:P5CR_dimer	162	238	6.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145047

Predicted Effect

probably benign
Transcript: ENSMUST00000151876
AA Change: T70A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	1	68	5.7e-13	PFAM
Pfam:NAD_Gly3P_dh_N	13	119	3e-8	PFAM
Pfam:P5CR_dimer	132	164	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170556
AA Change: T100A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140
AA Change: T100A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.4e-24	PFAM
Pfam:P5CR_dimer	163	267	2.3e-40	PFAM
low complexity region	292	303	N/A	INTRINSIC

Meta Mutation Damage Score

0.4257

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (30/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,726,891 (GRCm39)	T487I	possibly damaging	Het
Amn	T	C	12: 111,242,114 (GRCm39)	V367A	possibly damaging	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
C230029F24Rik	AGAAAG	A	1: 49,350,088 (GRCm39)		noncoding transcript	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cfap43	T	C	19: 47,785,555 (GRCm39)	K445R	probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Eif4e	G	A	3: 138,261,198 (GRCm39)	G164D	probably damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,343,169 (GRCm39)	R4565Q	probably benign	Het
Itgal	A	T	7: 126,923,709 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Ms4a2	A	G	19: 11,596,312 (GRCm39)	M139T	probably benign	Het
Nr2e3	C	T	9: 59,855,716 (GRCm39)	R213H	probably damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or2t43	T	A	11: 58,457,652 (GRCm39)	H173L	probably benign	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or5t17	A	G	2: 86,832,718 (GRCm39)	Y135C	possibly damaging	Het
Pabpc1l	T	A	2: 163,869,596 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,572,380 (GRCm39)	L253P	probably damaging	Het
Qrfpr	T	C	3: 36,276,072 (GRCm39)	N106S	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,461,086 (GRCm39)	D107E	probably damaging	Het
Synrg	C	T	11: 83,931,725 (GRCm39)	P1321S	probably benign	Het
Trgv7	A	G	13: 19,362,644 (GRCm39)	Y111C	probably damaging	Het
Trp53rkb	A	G	2: 166,637,392 (GRCm39)	Y116C	probably damaging	Het
Usp34	T	A	11: 23,293,640 (GRCm39)	F245I	probably benign	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Xpnpep1	T	C	19: 52,980,128 (GRCm39)	H632R	probably damaging	Het
Zfp735	T	C	11: 73,601,950 (GRCm39)	I298T	probably benign	Het
Zfp953	T	A	13: 67,496,002 (GRCm39)	Y13F	probably damaging	Het

Other mutations in Pycr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Pycr1	APN	11	120,532,092 (GRCm39)	missense	probably benign	0.00
R0285:Pycr1	UTSW	11	120,531,142 (GRCm39)	missense	probably benign	0.01
R0400:Pycr1	UTSW	11	120,532,352 (GRCm39)	splice site	probably benign
R2047:Pycr1	UTSW	11	120,532,512 (GRCm39)	missense	possibly damaging	0.89
R3548:Pycr1	UTSW	11	120,533,072 (GRCm39)	missense	probably benign	0.22
R3926:Pycr1	UTSW	11	120,532,961 (GRCm39)	missense	probably benign	0.09
R4166:Pycr1	UTSW	11	120,532,949 (GRCm39)	missense	probably benign	0.00
R5261:Pycr1	UTSW	11	120,532,050 (GRCm39)	missense	probably damaging	1.00
R5906:Pycr1	UTSW	11	120,532,988 (GRCm39)	missense	probably damaging	0.98
R7426:Pycr1	UTSW	11	120,533,749 (GRCm39)	missense	probably benign	0.02
R7985:Pycr1	UTSW	11	120,533,746 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATGTGCTTCCCCTATGG -3'
(R):5'- TCAGCTTTGTGGGCAGATAG -3'

Sequencing Primer
(F):5'- ATGGAGCACTTCCTGAGTTC -3'
(R):5'- AAGCTGGGTCTCCTTGCAC -3'

Posted On

2015-04-17